ArticleEuropean journal of human genetics : EJHG2014
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.Human molecular genetics · 2025Article
- Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.Scientific reports · 2024Article
- Variant calling and benchmarking in an era of complete human genome sequences.Nature reviews. Genetics · 2023Review
- In it for the long run: perspectives on exploiting long-read sequencing in livestock for population scale studies of structural variants.Genetics, selection, evolution : GSE · 2023Review
- Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.American journal of human genetics · 2022Article
- Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.Scientific reports · 2022Article
- Large Fragment InDels Reshape Genome Structure of Porcine Alveolar Macrophage 3D4/21 Cells.Genes · 2022Article
- Article
- A rigorousFrontiers in molecular neuroscience · 2022Article
- Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements.Reproductive biology and endocrinology : RB&E · 2020Article
- Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.Frontiers in genetics · 2020Article
- Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions.Journal of medical genetics · 2019Article
- A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.Human molecular genetics · 2019Article
- digit-a tool for detection and identification of genomic interchromosomal translocations.Nucleic acids research · 2017Article
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nature genetics · 2017Article
- Article
- Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos.EBioMedicine · 2016Article
- Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.American journal of human genetics · 2014Article
- Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Molecular cytogenetics · 2014Article
- ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.PloS one · 2014Article
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20 authors.
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Abstract
Recently, microarrays have replaced karyotyping as a first tier test in patients with idiopathic intellectual disability and/or multiple congenital abnormalities (ID/MCA) in many laboratories. Although in about 14-18% of such patients, DNA copy-number variants (CNVs) with clinical significance can be detected, microarrays have the disadvantage of missing balanced rearrangements, as well as providing no information about the genomic architecture of structural variants (SVs) like duplications and complex rearrangements. Such information could possibly lead to a better interpretation of the clinical significance of the SV. In this study, the clinical use of mate pair next-generation sequencing was evaluated for the detection and further characterization of structural variants within the genomes of 50 ID/MCA patients. Thirty of these patients carried a chromosomal aberration that was previously detected by array CGH or karyotyping and suspected to be pathogenic. In the remaining 20 patients no causal SVs were found and only benign aberrations were detected by conventional techniques. Combined cluster and coverage analysis of the mate pair data allowed precise breakpoint detection and further refinement of previously identified balanced and (complex) unbalanced aberrations, pinpointing the causal gene for some patients. We conclude that mate pair sequencing is a powerful technology that can provide rapid and unequivocal characterization of unbalanced and balanced SVs in patient genomes and can be essential for the clinical interpretation of some SVs.
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